WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

• Published in: American journal of human genetics Vol. 87; no. 4; pp. 465 - 479
• Main Authors: Kim, Hyung-Goo, Ahn, Jang-Won, Kurth, Ingo, Ullmann, Reinhard, Kim, Hyun-Taek, Kulharya, Anita, Ha, Kyung-Soo, Itokawa, Yasuhide, Meliciani, Irene, Wenzel, Wolfgang, Lee, Deresa, Rosenberger, Georg, Ozata, Metin, Bick, David P., Sherins, Richard J., Nagase, Takahiro, Tekin, Mustafa, Kim, Soo-Hyun, Kim, Cheol-Hee, Ropers, Hans-Hilger, Gusella, James F., Kalscheuer, Vera, Choi, Cheol Yong, Layman, Lawrence C.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 08.10.2010; Cell Press; Elsevier
• Subjects: Adolescent; Animals; Biological and medical sciences; Breakpoints; Chromosomes; Chromosomes, Human, Pair 10 - genetics; Endocrinopathies; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Homeodomain Proteins - genetics; Humans; Hypogonadism - genetics; Hypothalamus. Hypophysis. Epiphysis (diseases); Immunoblotting; Immunohistochemistry; Immunoprecipitation; In Situ Hybridization; In Situ Hybridization, Fluorescence; Kallmann Syndrome - genetics; Male; Medical genetics; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Microarray Analysis; Molecular and cellular biology; Mutation; Mutation, Missense - genetics; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Polymorphism, Single Nucleotide - genetics; Proteins; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins - metabolism; Puberty; Puberty - genetics; Rats; Reverse Transcriptase Polymerase Chain Reaction; Transcription Factors - genetics; Translocation, Genetic - genetics; Two-Hybrid System Techniques; Zebrafish; Endocrinopathy; Human; Hypogonadotropic hypogonadism; Nervous system diseases; Hypothalamic diseases; Idiopathic; Kallmann syndrome; Protein; Genetic disease; Genital diseases; Cerebral disorder; Malformation; Central nervous system disease; ENT disease; Genetics; Transcription factor

By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different h...